A21E (p.Ala21Glu) variant of TRMU (O75648)
A21E (p.Ala21Glu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 22-46335826-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.78
- MetaSVM 0.88
- CADD 28.50
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Literature evidence available