D130N (p.Asp130Asn) variant of GNAQ (P50148)
D130N (p.Asp130Asn) in GNAQ (P50148) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- rs192927818
- ClinGen CA5094643
- ClinVar RCV000912112
- 1000Genomes rs192927818
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.36
- MetaLR 0.56
- MetaSVM -0.22
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available