N126T (p.Asn126Thr) variant of GNAQ (P50148)
N126T (p.Asn126Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N126T (p.Asn126Thr) variant details
- p.Asn126Thr
- Ensembl rs1827001896
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.64
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available