K102E (p.Lys102Glu) variant of ATP6V0A4 (Q9HBG4)
K102E (p.Lys102Glu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K102E (p.Lys102Glu) variant details
- p.Lys102Glu
- Ensembl rs890598515
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.73
- ESM-1b 0.74
- AlphaMissense 0.31
- MetaLR 0.64
- MetaSVM 0.22
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available