P15R (p.Pro15Arg) variant of SETD1B (Q9UPS6)
P15R (p.Pro15Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- gnomAD 12-121804781-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.22
- ESM-1b 0.41
- AlphaMissense 0.36
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available