A110T (p.Ala110Thr) variant of GNAQ (P50148)
A110T (p.Ala110Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- ExAC rs775821091
- gnomAD rs775821091
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.66
- MetaLR 0.84
- MetaSVM 0.80
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available