P53S (p.Pro53Ser) variant of SLC22A5 (O76082)
P53S (p.Pro53Ser) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- gnomAD 5-132370129-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.88
- CADD 26.60
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available