P19S (p.Pro19Ser) variant of YAP1 (Transcriptional coactivator YAP1)
P19S (p.Pro19Ser) in YAP1 (Transcriptional coactivator YAP1) 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 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD rs1402910700
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.686