V5A (p.Val5Ala) variant of APOH (Beta-2-glycoprotein 1)
V5A (p.Val5Ala) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- rs3826358
- UniProt VAR 048316
- 1000Genomes rs3826358
- ESP rs3826358
- Missense
- Variant Prioritization Score for Impact Estimate 0.0379
- REVEL 0.01
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available