G62S (p.Gly62Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G62S (p.Gly62Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- rs781360634
- ClinGen CA6588282
- ClinVar RCV004412302
- ExAC rs781360634
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.36
- CADD 18.10
- PolyPhen-2 0.25
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available