V63I (p.Val63Ile) variant of SETD2 (Q9BYW2)
V63I (p.Val63Ile) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- gnomAD rs1398215878
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.40
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)