S27P (p.Ser27Pro) variant of SETD5 (Q9C0A6)
S27P (p.Ser27Pro) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 3-9433852-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.61
- MetaLR 0.92
- MetaSVM 1.06
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available