P29S (p.Pro29Ser) variant of GABRA1 (P14867)
P29S (p.Pro29Ser) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- rs143815396
- ClinGen CA245156
- ClinVar RCV000645390
- ClinVar RCV000724850
- Conflicting interpretations
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.11
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available