S39F (p.Ser39Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
S39F (p.Ser39Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- TOPMed rs11551750
- gnomAD rs11551750
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.9e-05)
- Structural context available