N38H (p.Asn38His) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
N38H (p.Asn38His) in FOXA2 (Hepatocyte nuclear factor 3-beta) 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 0.35 / 1. The record also includes population frequency data.
N38H (p.Asn38His) variant details
- p.Asn38His
- rs1247284954
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65796
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.26
- MetaLR 0.14
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.78
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available