A23D (p.Ala23Asp) variant of GNAT1 (P11488)
A23D (p.Ala23Asp) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD rs1177827474
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.16
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available