P18Q (p.Pro18Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
P18Q (p.Pro18Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- gnomAD 9-134642240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.24
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available