S71N (p.Ser71Asn) variant of GABRB3 (P28472)
S71N (p.Ser71Asn) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S71N (p.Ser71Asn) variant details
- p.Ser71Asn
- TOPMed rs1469460053
- gnomAD rs1469460053
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.66
- CADD 24.90
- PolyPhen-2 0.45
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available