P82R (p.Pro82Arg) variant of MMUT (P22033)
P82R (p.Pro82Arg) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P82R (p.Pro82Arg) variant details
- p.Pro82Arg
- ExAC rs766062848
- gnomAD rs766062848
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.53
- CADD 21.90
- PolyPhen-2 0.16
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available