K42N (p.Lys42Asn) variant of GNAT1 (P11488)
K42N (p.Lys42Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- ExAC rs776367777
- TOPMed rs776367777
- gnomAD rs776367777
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.74
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available