P14L (p.Pro14Leu) variant of SETD1B (Q9UPS6)
P14L (p.Pro14Leu) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 12-121804778-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available