V28A (p.Val28Ala) variant of TMC1 (Q8TDI8)
V28A (p.Val28Ala) in TMC1 (Q8TDI8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- rs1487669194
- TOPMed rs1487669194
- gnomAD rs1487669194
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available