G74S (p.Gly74Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G74S (p.Gly74Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
G74S (p.Gly74Ser) variant details
- p.Gly74Ser
- rs557308178
- ClinGen CA6588273
- ClinVar RCV004341396
- 1000Genomes rs557308178
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.20
- CADD 7.24
- PolyPhen-2 0.01
- SIFT 0.63
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available