S15T (p.Ser15Thr) variant of SETD5 (Q9C0A6)
S15T (p.Ser15Thr) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- gnomAD 3-9428981-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available