D125N (p.Asp125Asn) variant of MMUT (P22033)
D125N (p.Asp125Asn) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- gnomAD rs1397473284
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.52
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available