H51P (p.His51Pro) variant of SETD5 (Q9C0A6)
H51P (p.His51Pro) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H51P (p.His51Pro) variant details
- p.His51Pro
- ExAC rs767165651
- gnomAD rs767165651
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.71
- MetaLR 0.73
- MetaSVM 0.43
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available