A29V (p.Ala29Val) variant of OCRL (Q01968)
A29V (p.Ala29Val) in OCRL (Q01968) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Lowe syndrome. The record also includes variant effect predictions and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- ExAC rs769711342
- gnomAD rs769711342
- Uncertain significance
- Lowe syndrome
- Missense
- MetaLR 0.53
- MetaSVM -0.43
- SIFT 0.83
- ClinVar: Uncertain significance (Lowe syndrome)
- UniProt: Uncertain significance
- Structural context available