F12S (p.Phe12Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F12S (p.Phe12Ser) in NKX2-5 (Homeobox protein Nkx-2.5) 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 0.90 / 1. The record also includes structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- rs1085307815
- ClinGen CA362163821
- ClinVar RCV000489523
- Ensembl rs1085307815
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available