N5Y (p.Asn5Tyr) variant of GABRG2 (P18507)
N5Y (p.Asn5Tyr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N5Y (p.Asn5Tyr) variant details
- p.Asn5Tyr
- rs774337016
- ClinGen CA314759
- ClinVar RCV000187540
- ExAC rs774337016
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available