M56V (p.Met56Val) variant of ATP13A2 (Q9NQ11)
M56V (p.Met56Val) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- gnomAD rs1329426374
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.08
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available