R41Q (p.Arg41Gln) variant of KRT4 (Keratin, type II cytoskeletal 4)
R41Q (p.Arg41Gln) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; White sponge nevus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs36143766
- ClinGen CA6588836
- ClinVar RCV000329958
- ClinVar RCV003920287
- Benign
- not provided; White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- CADD 16.40
- PolyPhen-2 0.21
- SIFT 0.20
- ClinVar: Benign (not provided; White sponge nevus 1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available