D13G (p.Asp13Gly) variant of GNA11 (P29992)
D13G (p.Asp13Gly) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- TOPMed rs1913317982
- gnomAD rs1913317982
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available