A27D (p.Ala27Asp) variant of SLC22A5 (O76082)
A27D (p.Ala27Asp) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 5-132370052-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.75
- CADD 24.20
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available