S21F (p.Ser21Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
S21F (p.Ser21Phe) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- ESP rs368584130
- ExAC rs368584130
- TOPMed rs368584130
- gnomAD rs368584130
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.44
- CADD 24.90
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available