S32N (p.Ser32Asn) variant of CDKN1C (P49918)
S32N (p.Ser32Asn) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs2494390738
- ClinGen CA379147794
- ClinVar RCV002758393
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- MetaLR 0.28
- MetaSVM -0.82
- CADD 15.80
- PolyPhen-2 0.16
- SIFT 0.72
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- 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)