V15L (p.Val15Leu) variant of TRMU (O75648)
V15L (p.Val15Leu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- gnomAD 22-46335807-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.80
- MetaSVM 0.88
- CADD 31.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available