S83A (p.Ser83Ala) variant of PHF6 (PHD finger protein 6)
S83A (p.Ser83Ala) 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; Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S83A (p.Ser83Ala) variant details
- p.Ser83Ala
- rs762897039
- ClinGen CA10521186
- ClinVar RCV001785996
- ClinVar RCV003512136
- Uncertain significance
- not provided; Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- CADD 23.30
- PolyPhen-2 0.47
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available