L102F (p.Leu102Phe) variant of ATP13A2 (Q9NQ11)
L102F (p.Leu102Phe) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L102F (p.Leu102Phe) variant details
- p.Leu102Phe
- ExAC rs769073401
- gnomAD rs769073401
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 23.40
- PolyPhen-2 0.51
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available