D58A (p.Asp58Ala) variant of MMUT (P22033)
D58A (p.Asp58Ala) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D58A (p.Asp58Ala) variant details
- p.Asp58Ala
- ExAC rs775206518
- gnomAD rs775206518
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available