P9T (p.Pro9Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
P9T (p.Pro9Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- gnomAD 2-227164751-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available