V77M (p.Val77Met) variant of ABCA4 (P78363)
V77M (p.Val77Met) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V77M (p.Val77Met) variant details
- p.Val77Met
- rs1662603511
- ClinGen CA341285502
- ClinVar RCV001666802
- Ensembl rs1662603511
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- MetaLR 0.58
- MetaSVM -0.19
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Benign (not provided)
- EBI: Benign (in STGD1)
- UniProt: Benign (in STGD1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available