P63S (p.Pro63Ser) variant of SETD5 (Q9C0A6)
P63S (p.Pro63Ser) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- ExAC rs768319151
- gnomAD rs768319151
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- MetaLR 0.70
- MetaSVM 0.23
- CADD 22.60
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available