P32S (p.Pro32Ser) variant of FUS (RNA-binding protein FUS)
P32S (p.Pro32Ser) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD 16-31182568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.14
- MetaLR 0.38
- MetaSVM -0.31
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available