V19A (p.Val19Ala) variant of TRMU (O75648)
V19A (p.Val19Ala) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 22-46335820-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.49
- MetaSVM 0.08
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Literature evidence available