M33I (p.Met33Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
M33I (p.Met33Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M33I (p.Met33Ile) variant details
- p.Met33Ile
- ExAC rs745841591
- gnomAD rs745841591
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.23
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available