R41L (p.Arg41Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
R41L (p.Arg41Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99800
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 0.50
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available