M99V (p.Met99Val) variant of MMUT (P22033)
M99V (p.Met99Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
M99V (p.Met99Val) variant details
- p.Met99Val
- rs1467385866
- ClinGen CA364405063
- ClinVar RCV000521248
- ClinVar RCV004586758
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available