Q48R (p.Gln48Arg) variant of SERPINE1 (P05121)
Q48R (p.Gln48Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- gnomAD rs1183093492
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.10
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available