A18V (p.Ala18Val) variant of GNAS (P63092)
A18V (p.Ala18Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs778940007
- gnomAD 20-58840144-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 26.40
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available