D52N (p.Asp52Asn) variant of SERPINE1 (P05121)
D52N (p.Asp52Asn) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD 7-101128547-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.18
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available