L5Q (p.Leu5Gln) variant of RAMP1 (O60894)
L5Q (p.Leu5Gln) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- gnomAD 2-237859689-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available