N85D (p.Asn85Asp) variant of MCCC1 (Q96RQ3)
N85D (p.Asn85Asp) in MCCC1 (Q96RQ3) 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.
N85D (p.Asn85Asp) variant details
- p.Asn85Asp
- TOPMed rs1208373817
- gnomAD rs1208373817
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.31
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available