G74V (p.Gly74Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
G74V (p.Gly74Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
G74V (p.Gly74Val) variant details
- p.Gly74Val
- rs1939632095
- ClinGen CA384979509
- ClinVar RCV004147914
- gnomAD rs1939632095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.51
- CADD 21.00
- PolyPhen-2 0.52
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available