D33N (p.Asp33Asn) variant of GNAS (P63092)
D33N (p.Asp33Asn) in GNAS (P63092) 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 0.59 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs1255226034
- ClinGen CA409448958
- ClinVar RCV003332510
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.61
- CADD 20.20
- PolyPhen-2 0.37
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available