G72V (p.Gly72Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G72V (p.Gly72Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G72V (p.Gly72Val) variant details
- p.Gly72Val
- TOPMed rs1216084977
- gnomAD rs1216084977
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.71
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available