A11V (p.Ala11Val) variant of TAFAZZIN (Q16635)
A11V (p.Ala11Val) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- cosmic curated COSV10955
- gnomAD rs1557190828
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 19.50
- PolyPhen-2 0.99
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available