A27T (p.Ala27Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
A27T (p.Ala27Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs1327569810
- gnomAD rs1327569810
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available