V30L (p.Val30Leu) variant of PMP22 (Peripheral myelin protein 22)
V30L (p.Val30Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in HNPP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- ESP rs377335295
- ExAC rs377335295
- TOPMed rs377335295
- gnomAD rs377335295
- Likely benign
- in HNPP
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.51
- CADD 14.10
- PolyPhen-2 0.10
- SIFT 0.22
- EBI: Likely benign (in HNPP)
- UniProt: Likely benign (in HNPP)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available