I5T (p.Ile5Thr) variant of SETD5 (Q9C0A6)
I5T (p.Ile5Thr) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- gnomAD 3-9428952-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.47
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available