L48P (p.Leu48Pro) variant of ABCA4 (P78363)
L48P (p.Leu48Pro) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- TOPMed rs1570434341
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.45
- MetaLR 0.53
- MetaSVM -0.13
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available