R4P (p.Arg4Pro) variant of KRT10 (Keratin, type I cytoskeletal 10)
R4P (p.Arg4Pro) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- rs142158041
- ClinGen CA8548383
- ClinVar RCV001991857
- 1000Genomes rs142158041
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.53
- CADD 14.60
- PolyPhen-2 0.32
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)