A4S (p.Ala4Ser) variant of RAMP1 (O60894)
A4S (p.Ala4Ser) in RAMP1 (O60894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 2-237859685-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.01
- CADD 8.50
- PolyPhen-2 0.04
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available