K51R (p.Lys51Arg) variant of SERPINE1 (P05121)
K51R (p.Lys51Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- TOPMed rs533560118
- gnomAD rs533560118
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.11
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available