P14Q (p.Pro14Gln) variant of CR1 (Complement receptor type 1)
P14Q (p.Pro14Gln) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- rs769828093
- gnomAD 1-207496308-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.01
- CADD 19.40
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available