P41R (p.Pro41Arg) variant of MMUT (P22033)
P41R (p.Pro41Arg) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- TOPMed rs1371693978
- gnomAD rs1371693978
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.64
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available