A16T (p.Ala16Thr) variant of RIT1 (GTP-binding protein Rit1)
A16T (p.Ala16Thr) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs1131692009
- ClinGen CA342776396
- ClinVar RCV000494418
- ClinVar RCV002329177
- Uncertain significance
- Cardiovascular phenotype; not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.05
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)