P82A (p.Pro82Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
P82A (p.Pro82Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- Ensembl rs2125037204
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- CADD 17.60
- PolyPhen-2 0.20
- SIFT 0.57
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available