N14I (p.Asn14Ile) variant of GNAS (P63092)
N14I (p.Asn14Ile) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N14I (p.Asn14Ile) variant details
- p.Asn14Ile
- gnomAD 20-58840152-AAT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 24.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available