K31N (p.Lys31Asn) variant of GNAT1 (P11488)
K31N (p.Lys31Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- gnomAD 3-50191818-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.64
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available