S154P (p.Ser154Pro) variant of ATP6V0A4 (Q9HBG4)
S154P (p.Ser154Pro) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S154P (p.Ser154Pro) variant details
- p.Ser154Pro
- Ensembl rs757211932
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.73
- MetaSVM 0.08
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available