R7C (p.Arg7Cys) variant of RAMP1 (O60894)
R7C (p.Arg7Cys) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- gnomAD 2-237859694-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 14.20
- PolyPhen-2 0.35
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available