D15A (p.Asp15Ala) variant of TMC1 (Q8TDI8)
D15A (p.Asp15Ala) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- ExAC rs779209726
- gnomAD rs779209726
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available