I62N (p.Ile62Asn) variant of HNF4A (P41235)
I62N (p.Ile62Asn) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
I62N (p.Ile62Asn) variant details
- p.Ile62Asn
- rs2146367925
- ClinGen CA409103793
- ClinVar RCV001763397
- Ensembl rs2146367925
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available