M69T (p.Met69Thr) variant of PMP22 (Peripheral myelin protein 22)
M69T (p.Met69Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
M69T (p.Met69Thr) variant details
- p.Met69Thr
- rs104894620
- ClinGen CA288098399
- ClinVar RCV000638164
- ClinVar RCV001731826
- Conflicting interpretations
- not provided; Inborn genetic diseases; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Charcot-Marie-Tooth disea)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)