I68N (p.Ile68Asn) variant of GNAT1 (P11488)
I68N (p.Ile68Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I68N (p.Ile68Asn) variant details
- p.Ile68Asn
- gnomAD 3-50193318-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.91
- CADD 28.70
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available