P15T (p.Pro15Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
P15T (p.Pro15Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 9-134642230-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- CADD 20.80
- PolyPhen-2 0.64
- SIFT 0.54
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available