I69N (p.Ile69Asn) variant of GNAT1 (P11488)
I69N (p.Ile69Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I69N (p.Ile69Asn) variant details
- p.Ile69Asn
- gnomAD 3-50193321-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.71
- CADD 29.00
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available