Q24R (p.Gln24Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
Q24R (p.Gln24Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 2-188974560-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.51
- MetaLR 0.75
- MetaSVM 0.56
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available