S36P (p.Ser36Pro) variant of FOXP2 (Forkhead box protein P2)
S36P (p.Ser36Pro) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Childhood apraxia of speech. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S36P (p.Ser36Pro) variant details
- p.Ser36Pro
- rs750701057
- ClinGen CA4445657
- ClinVar RCV004394415
- ClinVar RCV004784200
- Conflicting interpretations
- Inborn genetic diseases; Childhood apraxia of speech
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Childhood apraxia of speech)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)