A69T (p.Ala69Thr) variant of RIT1 (GTP-binding protein Rit1)
A69T (p.Ala69Thr) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD rs1673399713
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.53
- MetaLR 0.40
- MetaSVM -0.10
- CADD 26.30
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available