D73V (p.Asp73Val) variant of MMAA (Q8IVH4)
D73V (p.Asp73Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D73V (p.Asp73Val) variant details
- p.Asp73Val
- gnomAD rs1342138127
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available