V67L (p.Val67Leu) variant of MMAA (Q8IVH4)
V67L (p.Val67Leu) 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.
V67L (p.Val67Leu) variant details
- p.Val67Leu
- ExAC rs759588632
- gnomAD rs759588632
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available