P7L (p.Pro7Leu) variant of YAP1 (Transcriptional coactivator YAP1)
P7L (p.Pro7Leu) 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 provided. 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.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs1025759993
- ClinGen CA228282918
- ClinVar RCV003112879
- TOPMed rs1025759993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.363