P99L (p.Pro99Leu) variant of ABCC6 (O95255)
P99L (p.Pro99Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- gnomAD rs1174296983
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.16
- CADD 17.70
- PolyPhen-2 0.41
- SIFT 0.41
- Most common in the East Asian population (allele frequency 8.9e-05)
- Structural context available