L107V (p.Leu107Val) variant of REEP1 (Q9H902)
L107V (p.Leu107Val) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 31. The record also includes structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- NCI-TCGA Cosmic COSV5125
- cosmic curated COSV51259
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- UniProt: Uncertain significance (in SPG31)
- Structural context available