N7Y (p.Asn7Tyr) variant of MMADHC (Q9H3L0)
N7Y (p.Asn7Tyr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N7Y (p.Asn7Tyr) variant details
- p.Asn7Tyr
- TOPMed rs1395336239
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available