D80H (p.Asp80His) variant of MMAB (Q96EY8)
D80H (p.Asp80His) in MMAB (Q96EY8) 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 and structural context.
D80H (p.Asp80His) variant details
- p.Asp80His
- gnomAD rs1184367667
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available