P15Q (p.Pro15Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
P15Q (p.Pro15Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P15Q (p.Pro15Gln) variant details
- p.Pro15Gln
- gnomAD 9-134642231-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.29
- CADD 19.00
- PolyPhen-2 0.88
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available