S23P (p.Ser23Pro) variant of REEP1 (Q9H902)
S23P (p.Ser23Pro) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronopathy, distal hereditary motor, type 5B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- rs2104394897
- ClinGen CA347722644
- ClinVar RCV001542525
- Ensembl rs2104394897
- Likely pathogenic
- Neuronopathy, distal hereditary motor, type 5B
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neuronopathy, distal hereditary motor, type 5B)
- EBI: Likely pathogenic (in SPG31)
- UniProt: Likely pathogenic (in SPG31)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available