S2L (p.Ser2Leu) variant of TMC1 (Q8TDI8)
S2L (p.Ser2Leu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- cosmic curated COSV52769
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available