Y106F (p.Tyr106Phe) variant of ABCA4 (P78363)
Y106F (p.Tyr106Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ABCA4-related disorder; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y106F (p.Tyr106Phe) variant details
- p.Tyr106Phe
- rs201150919
- ClinGen CA958865
- ClinVar RCV001100157
- ClinVar RCV001520655
- Conflicting interpretations
- ABCA4-related disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.26
- MetaLR 0.32
- MetaSVM -0.73
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (ABCA4-related disorder; Retinal dystrophy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.14)
- Structural context available