V30M (p.Val30Met) variant of ABCA4 (P78363)
V30M (p.Val30Met) 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 0.07 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs202127496
- ClinGen CA958936
- ClinVar RCV000585071
- 1000Genomes rs202127496
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.07
- CADD 3.77
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available