T2T (p.Thr2Thr) variant of GNA11 (P29992)
T2T (p.Thr2Thr) in GNA11 (P29992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- rs758302558
- gnomAD 19-3094657-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.17
- MetaLR 0.52
- MetaSVM -0.02
- CADD 15.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available