V40V (p.Val40Val) variant of ATL1 (Atlastin-1)
V40V (p.Val40Val) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- gnomAD 14-50587916-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 8.73
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available