A18S (p.Ala18Ser) variant of RAMP1 (O60894)
A18S (p.Ala18Ser) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 2-237859727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.04
- CADD 28.40
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available