V7A (p.Val7Ala) variant of TRMU (O75648)
V7A (p.Val7Ala) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TRMU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- ExAC rs749389507
- TOPMed rs749389507
- gnomAD rs749389507
- Uncertain significance
- TRMU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (TRMU-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available