L31V (p.Leu31Val) variant of GBA1 (P04062)
L31V (p.Leu31Val) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- gnomAD rs1461588734
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available