H51D (p.His51Asp) variant of SETD5 (Q9C0A6)
H51D (p.His51Asp) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H51D (p.His51Asp) variant details
- p.His51Asp
- gnomAD 3-9433924-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.66
- MetaLR 0.80
- MetaSVM 0.71
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available