R3L (p.Arg3Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
R3L (p.Arg3Leu) in COL2A1 (Collagen alpha-1(II) chain) 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 0.42 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs372229776
- ClinGen CA236497908
- ClinVar RCV001317703
- ESP rs372229776
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available