R13P (p.Arg13Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
R13P (p.Arg13Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- ESP rs367746866
- TOPMed rs367746866
- gnomAD rs367746866
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.30
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available