P32A (p.Pro32Ala) variant of SETD5 (Q9C0A6)
P32A (p.Pro32Ala) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P32A (p.Pro32Ala) variant details
- p.Pro32Ala
- ExAC rs778779754
- gnomAD rs778779754
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.48
- MetaLR 0.92
- MetaSVM 1.00
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available