S61R (p.Ser61Arg) variant of SETD1B (Q9UPS6)
S61R (p.Ser61Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S61R (p.Ser61Arg) variant details
- p.Ser61Arg
- gnomAD 12-121805124-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.90
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available