P31S (p.Pro31Ser) variant of GABRB3 (P28472)
P31S (p.Pro31Ser) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- TOPMed rs1891188288
- gnomAD rs1891188288
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available