S29L (p.Ser29Leu) variant of PLAU (P00749)
S29L (p.Ser29Leu) in PLAU (P00749) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- rs370557565
- cosmic curated COSV10103
- ESP rs370557565
- ExAC rs370557565
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.15
- MetaLR 0.39
- MetaSVM -0.61
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available