T54M (p.Thr54Met) variant of RAMP1 (O60894)
T54M (p.Thr54Met) 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 0.10 / 1. The record also includes population frequency data and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- rs754712934
- ClinGen CA2193193
- cosmic curated COSV10807
- ClinVar RCV004445740
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0971
- REVEL 0.08
- CADD 7.76
- PolyPhen-2 0.91
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available