C41F (p.Cys41Phe) variant of ATP13A2 (Q9NQ11)
C41F (p.Cys41Phe) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C41F (p.Cys41Phe) variant details
- p.Cys41Phe
- gnomAD rs1418430423
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available