M61L (p.Met61Leu) variant of ABCA4 (P78363)
M61L (p.Met61Leu) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
M61L (p.Met61Leu) variant details
- p.Met61Leu
- TOPMed rs1394943055
- gnomAD rs1394943055
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.54
- MetaLR 0.56
- MetaSVM 0.02
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available