P53A (p.Pro53Ala) variant of SLC22A1 (O15245)
P53A (p.Pro53Ala) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- gnomAD 6-160122092-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.50
- CADD 22.00
- PolyPhen-2 0.53
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available