T29A (p.Thr29Ala) variant of GNAT1 (P11488)
T29A (p.Thr29Ala) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- gnomAD rs1400630067
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.64
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available