D51N (p.Asp51Asn) variant of RIT1 (GTP-binding protein Rit1)
D51N (p.Asp51Asn) 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. 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.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs869025190
- ClinGen CA342775971
- ClinVar RCV004517222
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.46
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available