I47N (p.Ile47Asn) variant of WWTR1 (Q9GZV5)
I47N (p.Ile47Asn) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I47N (p.Ile47Asn) variant details
- p.Ile47Asn
- gnomAD rs1339816163
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.148