L47V (p.Leu47Val) variant of SETD1B (Q9UPS6)
L47V (p.Leu47Val) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD 12-121804876-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- ESM-1b 0.76
- AlphaMissense 0.26
- CADD 17.30
- PolyPhen-2 0.12
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available