N33K (p.Asn33Lys) variant of GABRB3 (P28472)
N33K (p.Asn33Lys) in GABRB3 (P28472) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N33K (p.Asn33Lys) variant details
- p.Asn33Lys
- ExAC rs748306024
- TOPMed rs748306024
- gnomAD rs748306024
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.09
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available