P53R (p.Pro53Arg) variant of SLC22A1 (O15245)
P53R (p.Pro53Arg) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- gnomAD 6-160122093-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.66
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available