K29T (p.Lys29Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
K29T (p.Lys29Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- gnomAD 2-227164812-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.46
- CADD 25.80
- PolyPhen-2 0.47
- SIFT 0.06
- Most common in the South Asian population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available