A110V (p.Ala110Val) variant of REEP1 (Q9H902)
A110V (p.Ala110Val) in REEP1 (Q9H902) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- gnomAD rs1182977563
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.54
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.75
- CADD 25.20
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available