N66S (p.Asn66Ser) variant of GABRB3 (P28472)
N66S (p.Asn66Ser) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N66S (p.Asn66Ser) variant details
- p.Asn66Ser
- cosmic curated COSV54670
- gnomAD rs1360593791
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.25
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available