A30G (p.Ala30Gly) variant of RAMP1 (O60894)
A30G (p.Ala30Gly) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- ESP rs374749100
- ExAC rs374749100
- TOPMed rs374749100
- gnomAD rs374749100
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available