L13P (p.Leu13Pro) variant of ABCC4 (O15439)
L13P (p.Leu13Pro) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- Ensembl rs2041674173
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 25.00
- PolyPhen-2 0.62
- SIFT 0.12
- Population evidence available