V38L (p.Val38Leu) variant of ABCA4 (P78363)
V38L (p.Val38Leu) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ExAC rs771350693
- gnomAD rs771350693
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.29
- MetaLR 0.73
- MetaSVM 0.19
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available