P23H (p.Pro23His) variant of FGFR2 (P21802)
P23H (p.Pro23His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Jackson-Weiss syndrome; Acrocephalosyndactyly type I; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- ExAC rs774554190
- gnomAD rs774554190
- Uncertain significance
- Jackson-Weiss syndrome; Acrocephalosyndactyly type I; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.61
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Jackson-Weiss syndrome; Acrocephalosyndactyly type I; Pfeiffer s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available