S82R (p.Ser82Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
S82R (p.Ser82Arg) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S82R (p.Ser82Arg) variant details
- p.Ser82Arg
- TOPMed rs1907537948
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.35
- CADD 0.01
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available