M8I (p.Met8Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
M8I (p.Met8Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- gnomAD rs1433191683
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.31
- CADD 19.40
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available