D49N (p.Asp49Asn) variant of RIT1 (GTP-binding protein Rit1)
D49N (p.Asp49Asn) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- gnomAD 1-155910468-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.34
- CADD 26.60
- PolyPhen-2 0.38
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available