P8S (p.Pro8Ser) variant of SETD2 (Q9BYW2)
P8S (p.Pro8Ser) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- Ensembl rs2106868617
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.108