M62V (p.Met62Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
M62V (p.Met62Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M62V (p.Met62Val) variant details
- p.Met62Val
- ExAC rs770795118
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.33
- CADD 15.30
- PolyPhen-2 0.10
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available