H31Y (p.His31Tyr) variant of MFN2 (Mitofusin-2)
H31Y (p.His31Tyr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- rs1553140991
- ClinGen CA338459590
- ClinVar RCV000557917
- Ensembl rs1553140991
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.66
- CADD 22.60
- PolyPhen-2 0.81
- SIFT 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)