G40A (p.Gly40Ala) variant of KRT3 (Keratin, type II cytoskeletal 3)
G40A (p.Gly40Ala) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G40A (p.Gly40Ala) variant details
- p.Gly40Ala
- TOPMed rs928474636
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.40
- CADD 11.50
- PolyPhen-2 0.14
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available