R41G (p.Arg41Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
R41G (p.Arg41Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- gnomAD 7-94399073-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.58
- MetaLR 0.82
- MetaSVM 0.77
- CADD 31.00
- PolyPhen-2 0.57
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available