I92V (p.Ile92Val) variant of PHF6 (PHD finger protein 6)
I92V (p.Ile92Val) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Borjeson-Forssman-Lehmann syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- rs773176481
- ClinGen CA10521188
- ClinVar RCV002865351
- ClinVar RCV003621674
- Benign/Likely benign
- Borjeson-Forssman-Lehmann syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.24
- ClinVar: Benign/Likely benign (Borjeson-Forssman-Lehmann syndrome; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)