P132S (p.Pro132Ser) variant of ETV4 (ETS translocation variant 4)
P132S (p.Pro132Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data.
P132S (p.Pro132Ser) variant details
- p.Pro132Ser
- gnomAD rs1299418382
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)