D40V (p.Asp40Val) variant of TRMU (O75648)
D40V (p.Asp40Val) in TRMU (O75648) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D40V (p.Asp40Val) variant details
- p.Asp40Val
- TOPMed rs1301184606
- gnomAD rs1301184606
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available