G10S (p.Gly10Ser) variant of KCNQ4 (P56696)
G10S (p.Gly10Ser) in KCNQ4 (P56696) 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; Autosomal dominant nonsyndromic hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs1170668900
- ClinGen CA339884859
- ClinVar RCV002872442
- ClinVar RCV004065019
- Uncertain significance
- Inborn genetic diseases; not provided; Autosomal dominant nonsyndromic hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- MetaLR 0.71
- MetaSVM 0.06
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Autosomal dominant nonsyn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)