H9D (p.His9Asp) variant of MMAA (Q8IVH4)
H9D (p.His9Asp) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
H9D (p.His9Asp) variant details
- p.His9Asp
- Ensembl rs2126616976
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available