H20R (p.His20Arg) variant of RAMP1 (O60894)
H20R (p.His20Arg) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- gnomAD 2-237877230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- REVEL 0.02
- CADD 5.21
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available