S76R (p.Ser76Arg) variant of PMP22 (Peripheral myelin protein 22)
S76R (p.Ser76Arg) 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; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- rs1555565283
- ClinGen CA398268148
- ClinVar RCV000517250
- ClinVar RCV006463214
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease, type I)
- EBI: Likely pathogenic (in DSS)
- UniProt: Likely pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)