P82L (p.Pro82Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
P82L (p.Pro82Leu) in COL4A4 (Collagen alpha-4(IV) 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 and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- Ensembl rs2061756645
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.35
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available