S21L (p.Ser21Leu) variant of YAP1 (Transcriptional coactivator YAP1)
S21L (p.Ser21Leu) 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 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- rs990765765
- ClinGen CA228282923
- ClinVar RCV003405035
- TOPMed rs990765765
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.8e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.621