V21L (p.Val21Leu) variant of PMP22 (Peripheral myelin protein 22)
V21L (p.Val21Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- gnomAD rs1344381247
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.24
- SIFT 0.08
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available