I54V (p.Ile54Val) variant of SERPINC1 (Antithrombin-III)
I54V (p.Ile54Val) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- rs780670128
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ExAC rs780670128
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available