T2I (p.Thr2Ile) variant of GNA11 (P29992)
T2I (p.Thr2Ile) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- gnomAD rs1417344175
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available