M66K (p.Met66Lys) variant of ABCA4 (P78363)
M66K (p.Met66Lys) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
M66K (p.Met66Lys) variant details
- p.Met66Lys
- ExAC rs762081422
- gnomAD rs762081422
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.44
- MetaLR 0.81
- MetaSVM 0.49
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available