E1271G (p.Glu1271Gly) variant of ABCA4 (P78363)
E1271G (p.Glu1271Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E1271G (p.Glu1271Gly) variant details
- p.Glu1271Gly
- rs1660360744
- ClinGen CA341288631
- ClinVar RCV001232792
- ClinVar RCV003313997
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.95
- MetaLR 0.82
- MetaSVM 0.90
- CADD 35.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available