S4N (p.Ser4Asn) variant of TBCD (Tubulin-specific chaperone D)
S4N (p.Ser4Asn) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- gnomAD 17-82752204-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.04
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available