V51I (p.Val51Ile) variant of RAMP1 (O60894)
V51I (p.Val51Ile) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- cosmic curated COSV54537
- 1000Genomes rs372494526
- ESP rs372494526
- ExAC rs372494526
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0637
- REVEL 0.05
- CADD 0.12
- PolyPhen-2 0.01
- SIFT 0.91
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available