Q101K (p.Gln101Lys) variant of ATP13A2 (Q9NQ11)
Q101K (p.Gln101Lys) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q101K (p.Gln101Lys) variant details
- p.Gln101Lys
- TOPMed rs1570892631
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.13
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available