D55N (p.Asp55Asn) variant of GNAT1 (P11488)
D55N (p.Asp55Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- gnomAD 3-50193278-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available