A35T (p.Ala35Thr) variant of PMP22 (Peripheral myelin protein 22)
A35T (p.Ala35Thr) 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 Charcot-Marie-Tooth disease, type I; not provided; Tip-toe gait. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs750000952
- ClinGen CA8403425
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56601
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; not provided; Tip-toe gait
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.18
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; not provided; Tip-toe gait)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)