I95V (p.Ile95Val) variant of GBA1 (P04062)
I95V (p.Ile95Val) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- ExAC rs745398454
- gnomAD rs745398454
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.19
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available