R76Q (p.Arg76Gln) variant of KRT3 (Keratin, type II cytoskeletal 3)
R76Q (p.Arg76Gln) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- 1000Genomes rs201539577
- ESP rs201539577
- ExAC rs201539577
- TOPMed rs201539577
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.10
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Benign (not provided)
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available