L81I (p.Leu81Ile) variant of MMUT (P22033)
L81I (p.Leu81Ile) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L81I (p.Leu81Ile) variant details
- p.Leu81Ile
- rs150841850
- ClinGen CA364405234
- ClinVar RCV001835136
- ClinVar RCV002564040
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.27
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available