T54K (p.Thr54Lys) variant of RAMP1 (O60894)
T54K (p.Thr54Lys) in RAMP1 (O60894) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- ExAC rs754712934
- TOPMed rs754712934
- gnomAD rs754712934
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.08
- CADD 0.05
- PolyPhen-2 0.08
- SIFT 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available