V77A (p.Val77Ala) variant of ABCA4 (P78363)
V77A (p.Val77Ala) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- gnomAD rs61748527
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.51
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available