H25D (p.His25Asp) variant of MMAA (Q8IVH4)
H25D (p.His25Asp) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H25D (p.His25Asp) variant details
- p.His25Asp
- gnomAD rs1282901331
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available