A7P (p.Ala7Pro) variant of SLC18A2 (Q05940)
A7P (p.Ala7Pro) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- cosmic curated COSV53693
- gnomAD rs1276677749
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available