V94A (p.Val94Ala) variant of ABCA4 (P78363)
V94A (p.Val94Ala) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- TOPMed rs1382695024
- gnomAD rs1382695024
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.89
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.10
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available