P30S (p.Pro30Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
P30S (p.Pro30Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1907060179
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.19
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available