D35G (p.Asp35Gly) variant of GNA11 (P29992)
D35G (p.Asp35Gly) in GNA11 (P29992) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
D35G (p.Asp35Gly) variant details
- p.Asp35Gly
- Ensembl rs2145300391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.41
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available