N34S (p.Asn34Ser) variant of SETD2 (Q9BYW2)
N34S (p.Asn34Ser) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- Ensembl rs2106730088
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.25
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.52