V19E (p.Val19Glu) variant of TRMU (O75648)
V19E (p.Val19Glu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V19E (p.Val19Glu) variant details
- p.Val19Glu
- gnomAD 22-46335820-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.67
- CADD 32.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available