N59S (p.Asn59Ser) variant of PHF6 (PHD finger protein 6)
N59S (p.Asn59Ser) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- rs202007952
- ClinGen CA10521163
- ClinVar RCV000497949
- ClinVar RCV003766791
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.7e-05)
- Structural context available