H20Y (p.His20Tyr) variant of RAMP1 (O60894)
H20Y (p.His20Tyr) 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 0.15 / 1. The record also includes population frequency data and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- rs888987308
- ClinGen CA67922365
- ClinVar RCV004445741
- TOPMed rs888987308
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- CADD 11.40
- PolyPhen-2 0.25
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available