N40D (p.Asn40Asp) variant of TAFAZZIN (Q16635)
N40D (p.Asn40Asp) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N40D (p.Asn40Asp) variant details
- p.Asn40Asp
- gnomAD X-154412094-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available