H26Q (p.His26Gln) variant of SERPINE1 (P05121)
H26Q (p.His26Gln) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H26Q (p.His26Gln) variant details
- p.His26Gln
- gnomAD 7-101128471-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.15
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available