I20V (p.Ile20Val) variant of GBA1 (P04062)
I20V (p.Ile20Val) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. 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.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- rs143187997
- ClinGen CA1141866
- ClinVar RCV000315206
- 1000Genomes rs143187997
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.12
- AlphaMissense 0.31
- MetaLR 0.06
- MetaSVM -1.05
- CADD 0.00
- PolyPhen-2 0.14
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available