V114I (p.Val114Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V114I (p.Val114Ile) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital secretory sodium diarrhea 8; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V114I (p.Val114Ile) variant details
- p.Val114Ile
- rs200473589
- ClinGen CA3176360
- NCI-TCGA Cosmic COSV5380
- cosmic curated COSV53804
- Uncertain significance
- Congenital secretory sodium diarrhea 8; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Congenital secretory sodium diarrhea 8; Inborn genetic diseases;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)