S15P (p.Ser15Pro) variant of SETD5 (Q9C0A6)
S15P (p.Ser15Pro) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 3-9428981-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.28
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available