S42L (p.Ser42Leu) variant of WWTR1 (Q9GZV5)
S42L (p.Ser42Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S42L (p.Ser42Leu) variant details
- p.Ser42Leu
- gnomAD rs1339640647
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.17
- CADD 25.70
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.164