N31S (p.Asn31Ser) variant of CASK (O14936)
N31S (p.Asn31Ser) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Intellectual disability, CASK-related, X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- rs2519892738
- ClinGen CA413000948
- ClinVar RCV002371511
- ClinVar RCV003100138
- Uncertain significance
- Inborn genetic diseases; not provided; Intellectual disability, CASK-related, X
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.13
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Intellectual disability,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.579
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)