M77T (p.Met77Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
M77T (p.Met77Thr) 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.
M77T (p.Met77Thr) variant details
- p.Met77Thr
- gnomAD rs1211162885
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.17
- CADD 7.07
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available