P53S (p.Pro53Ser) variant of SLC22A1 (O15245)
P53S (p.Pro53Ser) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- gnomAD 6-160122092-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.52
- CADD 19.60
- PolyPhen-2 0.46
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available