S47R (p.Ser47Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
S47R (p.Ser47Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- 1000Genomes rs372128289
- ESP rs372128289
- ExAC rs372128289
- TOPMed rs372128289
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.44
- CADD 0.00
- PolyPhen-2 0.50
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available