A21D (p.Ala21Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
A21D (p.Ala21Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- TOPMed rs1288985778
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available