P19T (p.Pro19Thr) variant of REEP1 (Q9H902)
P19T (p.Pro19Thr) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 31; REEP1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- rs2468983254
- ClinGen CA347722707
- ClinVar RCV003391646
- ClinVar RCV005254785
- Conflicting interpretations
- Hereditary spastic paraplegia 31; REEP1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 31; REEP1-related disorder)
- EBI: Likely pathogenic (in SPG31)
- UniProt: Likely pathogenic (in SPG31)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available