Y32F (p.Tyr32Phe) variant of RAMP1 (O60894)
Y32F (p.Tyr32Phe) 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 0.08 / 1. The record also includes population frequency data and structural context.
Y32F (p.Tyr32Phe) variant details
- p.Tyr32Phe
- rs748950129
- ClinGen CA2193175
- ClinVar RCV004140648
- ExAC rs748950129
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.078
- REVEL 0.08
- CADD 2.41
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available