N35H (p.Asn35His) variant of SETD5 (Q9C0A6)
N35H (p.Asn35His) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N35H (p.Asn35His) variant details
- p.Asn35His
- ExAC rs745801163
- gnomAD rs745801163
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- MetaLR 0.56
- MetaSVM 0.08
- CADD 20.50
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.3e-05)
- Structural context available