D16G (p.Asp16Gly) variant of TRMU (O75648)
D16G (p.Asp16Gly) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- gnomAD 22-46335811-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- CADD 33.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available