P23T (p.Pro23Thr) variant of FGFR2 (P21802)
P23T (p.Pro23Thr) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- rs1309596973
- ClinGen CA378327984
- ClinVar RCV001768053
- ClinVar RCV005038306
- Uncertain significance
- FGFR2-related craniosynostosis; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.58
- AlphaMissense 0.23
- MetaLR 0.51
- MetaSVM -0.18
- CADD 24.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis; Inborn genetic diseases; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)