S41F (p.Ser41Phe) variant of SETD5 (Q9C0A6)
S41F (p.Ser41Phe) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- Ensembl rs1575376985
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.37
- MetaLR 0.71
- MetaSVM 0.17
- CADD 23.10
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available