A30T (p.Ala30Thr) variant of RAMP1 (O60894)
A30T (p.Ala30Thr) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 2-237877259-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0623
- REVEL 0.04
- CADD 6.38
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available