P95L (p.Pro95Leu) variant of MMUT (P22033)
P95L (p.Pro95Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MMUT-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P95L (p.Pro95Leu) variant details
- p.Pro95Leu
- rs190834116
- ClinGen CA3847144
- ClinVar RCV000415260
- ClinVar RCV002524669
- Uncertain significance
- MMUT-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (MMUT-related disorder; not specified; not provided)
- EBI: Variant of uncertain significance (in MAMM)
- UniProt: Uncertain significance (in MAMM)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)