Q23R (p.Gln23Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
Q23R (p.Gln23Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD 7-94395099-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.56
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available