H51R (p.His51Arg) variant of SETD5 (Q9C0A6)
H51R (p.His51Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- gnomAD 3-9433925-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- MetaLR 0.74
- MetaSVM 0.48
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available