S49F (p.Ser49Phe) variant of KRT9 (Keratin, type I cytoskeletal 9)
S49F (p.Ser49Phe) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- ExAC rs776605756
- TOPMed rs776605756
- gnomAD rs776605756
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.35
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available