A21T (p.Ala21Thr) variant of TRMU (O75648)
A21T (p.Ala21Thr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 22-46335825-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.74
- MetaSVM 0.76
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available