I41T (p.Ile41Thr) variant of SETD2 (Q9BYW2)
I41T (p.Ile41Thr) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I41T (p.Ile41Thr) variant details
- p.Ile41Thr
- Ensembl rs2106729674
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.338