P99L (p.Pro99Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
P99L (p.Pro99Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- TOPMed rs1284690918
- gnomAD rs1284690918
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.17
- CADD 0.63
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available