A3T (p.Ala3Thr) variant of TRMU (O75648)
A3T (p.Ala3Thr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- 1000Genomes rs562701324
- ExAC rs562701324
- gnomAD rs562701324
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available