S44P (p.Ser44Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
S44P (p.Ser44Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- TOPMed rs1486488577
- gnomAD rs1486488577
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.11
- CADD 21.40
- PolyPhen-2 0.81
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available