P6L (p.Pro6Leu) variant of SETD2 (Q9BYW2)
P6L (p.Pro6Leu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- ExAC rs773983305
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.227