P137L (p.Pro137Leu) variant of VCP (P55072)
P137L (p.Pro137Leu) in VCP (P55072) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2Y; Inclusion body myopathy with Paget disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P137L (p.Pro137Leu) variant details
- p.Pro137Leu
- Ensembl rs868435969
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2Y; Inclusion body myopathy with Paget disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.88
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2Y; Inclusion body myopathy wit)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available