A27P (p.Ala27Pro) variant of SLC22A5 (O76082)
A27P (p.Ala27Pro) 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.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- gnomAD 5-132370051-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.76
- CADD 28.10
- PolyPhen-2 0.69
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available