G61A (p.Gly61Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
G61A (p.Gly61Ala) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G61A (p.Gly61Ala) variant details
- p.Gly61Ala
- TOPMed rs1243164385
- gnomAD rs1243164385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.55
- CADD 21.80
- PolyPhen-2 0.56
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available