P4R (p.Pro4Arg) variant of GABRG2 (P18507)
P4R (p.Pro4Arg) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs894465528
- gnomAD 5-162036849-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 5.57
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available