M448V (p.Met448Val) variant of ABCA4 (P78363)
M448V (p.Met448Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; Age related macular degeneration 2; Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M448V (p.Met448Val) variant details
- p.Met448Val
- rs1169850759
- ClinGen CA341282274
- ClinVar RCV001063057
- ClinVar RCV005036365
- Pathogenic/Likely pathogenic
- Stargardt disease; Age related macular degeneration 2; Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.87
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; Age related macular degeneration 2; Cone-rod)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)