S22P (p.Ser22Pro) variant of PMP22 (Peripheral myelin protein 22)
S22P (p.Ser22Pro) in PMP22 (Peripheral myelin protein 22) 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 I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- rs1300756669
- ClinGen CA398271676
- ClinVar RCV003742526
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.61
- MetaLR 0.47
- MetaSVM -0.47
- PolyPhen-2 0.04
- SIFT 0.03
- EVE 0.56
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance (in HNPP and CMT1A)
- UniProt: Uncertain significance (in HNPP and CMT1A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)