K37R (p.Lys37Arg) variant of SETD5 (Q9C0A6)
K37R (p.Lys37Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K37R (p.Lys37Arg) variant details
- p.Lys37Arg
- TOPMed rs1177306457
- gnomAD rs1177306457
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.53
- MetaLR 0.92
- MetaSVM 1.06
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available