H43P (p.His43Pro) variant of PHF6 (PHD finger protein 6)
H43P (p.His43Pro) in PHF6 (PHD finger protein 6) 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 0.50 / 1. The record also includes structural context.
H43P (p.His43Pro) variant details
- p.His43Pro
- rs1273843884
- ClinGen CA414710875
- ClinVar RCV003887401
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.50
- MetaLR 0.30
- MetaSVM -0.57
- PolyPhen-2 0.99
- SIFT 0.26
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available