R136S (p.Arg136Ser) variant of PLAT (P00750)
R136S (p.Arg136Ser) in PLAT (P00750) 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.
R136S (p.Arg136Ser) variant details
- p.Arg136Ser
- rs8178747
- UniProt VAR 038732
- 1000Genomes rs8178747
- ESP rs8178747
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.53
- CADD 21.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available