V4M (p.Val4Met) variant of ABCA4 (P78363)
V4M (p.Val4Met) 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 population frequency data and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs369852553
- ClinGen CA26845241
- ClinVar RCV002907770
- ESP rs369852553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.72
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available