R3H (p.Arg3His) variant of COL2A1 (Collagen alpha-1(II) chain)
R3H (p.Arg3His) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- ESP rs372229776
- gnomAD rs372229776
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available