D13E (p.Asp13Glu) variant of GNA11 (P29992)
D13E (p.Asp13Glu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- gnomAD 19-3094690-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.17
- CADD 9.88
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available