P32S (p.Pro32Ser) variant of FGFR4 (P22455)
P32S (p.Pro32Ser) in FGFR4 (P22455) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- rs762859761
- ClinGen CA3575908
- ClinVar RCV004089999
- ExAC rs762859761
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available