M14V (p.Met14Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
M14V (p.Met14Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M14V (p.Met14Val) variant details
- p.Met14Val
- TOPMed rs1297477991
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.19
- CADD 8.74
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available