T2N (p.Thr2Asn) variant of GNA11 (P29992)
T2N (p.Thr2Asn) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T2N (p.Thr2Asn) variant details
- p.Thr2Asn
- gnomAD 19-3094656-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.02
- CADD 22.40
- PolyPhen-2 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available