Q48K (p.Gln48Lys) variant of SERPINE1 (P05121)
Q48K (p.Gln48Lys) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- gnomAD 7-101128535-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.14
- CADD 5.98
- PolyPhen-2 0.02
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available