N40H (p.Asn40His) variant of TAFAZZIN (Q16635)
N40H (p.Asn40His) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N40H (p.Asn40His) variant details
- p.Asn40His
- cosmic curated COSV99185
- gnomAD rs1557191059
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 26.00
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available