A41V (p.Ala41Val) variant of PHF6 (PHD finger protein 6)
A41V (p.Ala41Val) 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 Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs760978695
- ClinGen CA10521138
- ClinVar RCV001978793
- ExAC rs760978695
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.71
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available