A50V (p.Ala50Val) variant of RAMP1 (O60894)
A50V (p.Ala50Val) 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 and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- cosmic curated COSV10454
- gnomAD rs1273933225
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available