P4Q (p.Pro4Gln) variant of GABRG2 (P18507)
P4Q (p.Pro4Gln) in GABRG2 (P18507) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- ESP rs375295110
- ExAC rs375295110
- TOPMed rs375295110
- gnomAD rs375295110
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available