S21Y (p.Ser21Tyr) variant of KRT5 (Keratin, type II cytoskeletal 5)
S21Y (p.Ser21Tyr) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- ESP rs368584130
- ExAC rs368584130
- TOPMed rs368584130
- gnomAD rs368584130
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.58
- CADD 27.30
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available