P15A (p.Pro15Ala) variant of SETD1B (Q9UPS6)
P15A (p.Pro15Ala) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- gnomAD 12-121804780-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.80
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available