S75I (p.Ser75Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
S75I (p.Ser75Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S75I (p.Ser75Ile) variant details
- p.Ser75Ile
- ExAC rs771057394
- TOPMed rs771057394
- gnomAD rs771057394
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.14
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available