A45V (p.Ala45Val) variant of ABCA4 (P78363)
A45V (p.Ala45Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs368503198
- ClinGen CA341286519
- ClinVar RCV001341271
- ESP rs368503198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available