N72K (p.Asn72Lys) variant of GABRG2 (P18507)
N72K (p.Asn72Lys) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- rs768062008
- ClinGen CA3544684
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62715
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available