H51L (p.His51Leu) variant of SETD5 (Q9C0A6)
H51L (p.His51Leu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H51L (p.His51Leu) variant details
- p.His51Leu
- gnomAD 3-9433925-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- MetaLR 0.72
- MetaSVM 0.30
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available