T38A (p.Thr38Ala) variant of SETD2 (Q9BYW2)
T38A (p.Thr38Ala) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- Ensembl rs2106729838
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.228