P29R (p.Pro29Arg) variant of GABRA1 (P14867)
P29R (p.Pro29Arg) in GABRA1 (P14867) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- ExAC rs200218956
- TOPMed rs200218956
- gnomAD rs200218956
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.31
- CADD 12.00
- PolyPhen-2 0.03
- SIFT 0.43
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available