A20V (p.Ala20Val) variant of REEP1 (Q9H902)
A20V (p.Ala20Val) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs121918262
- ClinGen CA347722689
- cosmic curated COSV51256
- ClinVar RCV001213470
- Likely pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.85
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 31)
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)