P18Q (p.Pro18Gln) variant of SETD2 (Q9BYW2)
P18Q (p.Pro18Gln) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- gnomAD rs1697585520
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.34
- AlphaMissense 0.08
- MetaLR 0.39
- MetaSVM -0.74
- CADD 24.20
- PolyPhen-2 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.105