M61T (p.Met61Thr) variant of ABCA4 (P78363)
M61T (p.Met61Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
M61T (p.Met61Thr) variant details
- p.Met61Thr
- rs2524008053
- ClinGen CA341285600
- ClinVar RCV002622047
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.86
- MetaLR 0.86
- MetaSVM 0.87
- CADD 25.10
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available