D73N (p.Asp73Asn) variant of MMAA (Q8IVH4)
D73N (p.Asp73Asn) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D73N (p.Asp73Asn) variant details
- p.Asp73Asn
- TOPMed rs1268784552
- gnomAD rs1268784552
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available