A49T (p.Ala49Thr) variant of SERPINE1 (P05121)
A49T (p.Ala49Thr) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- ExAC rs753220162
- TOPMed rs753220162
- gnomAD rs753220162
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.22
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available