L49V (p.Leu49Val) variant of MMAA (Q8IVH4)
L49V (p.Leu49Val) in MMAA (Q8IVH4) 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.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- TOPMed rs991910272
- gnomAD rs991910272
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.62
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available