T40N (p.Thr40Asn) variant of GNAS (P63092)
T40N (p.Thr40Asn) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- gnomAD 20-58840246-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 24.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available