P71L (p.Pro71Leu) variant of MMUT (P22033)
P71L (p.Pro71Leu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- TOPMed rs1767774959
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available