A20D (p.Ala20Asp) variant of TRMU (O75648)
A20D (p.Ala20Asp) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 22-46335823-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.61
- MetaSVM 0.52
- CADD 28.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available