D40H (p.Asp40His) variant of TRMU (O75648)
D40H (p.Asp40His) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, 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 0.82 / 1. The record also includes population frequency data and structural context.
D40H (p.Asp40His) variant details
- p.Asp40His
- rs863224240
- ClinGen CA321425
- ClinVar RCV000196998
- gnomAD rs863224240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available