P9L (p.Pro9Leu) variant of WWTR1 (Q9GZV5)
P9L (p.Pro9Leu) in WWTR1 (Q9GZV5) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs149985695
- ClinGen CA2662450
- cosmic curated COSV10652
- ClinVar RCV003437967
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.0347