D15V (p.Asp15Val) variant of TMC1 (Q8TDI8)
D15V (p.Asp15Val) in TMC1 (Q8TDI8) 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 0.27 / 1. The record also includes structural context.
D15V (p.Asp15Val) variant details
- p.Asp15Val
- ExAC rs779209726
- gnomAD rs779209726
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available