H25P (p.His25Pro) variant of SERPINE1 (P05121)
H25P (p.His25Pro) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H25P (p.His25Pro) variant details
- p.His25Pro
- rs2227647
- ClinGen CA4405515
- ClinVar RCV001454287
- UniProt VAR 013086
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.18
- CADD 4.13
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs2227647)
- UniProt: Likely benign (in dbSNP:rs2227647)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available