R44L (p.Arg44Leu) variant of WWTR1 (Q9GZV5)
R44L (p.Arg44Leu) in WWTR1 (Q9GZV5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- rs762511917
- NCI-TCGA Cosmic COSV6229
- cosmic curated COSV62293
- ExAC rs762511917
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.43
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score 0.014