P6R (p.Pro6Arg) variant of SETD5 (Q9C0A6)
P6R (p.Pro6Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- ExAC rs753060691
- gnomAD rs753060691
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.61
- MetaLR 0.87
- MetaSVM 0.85
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available