S2P (p.Ser2Pro) variant of TMC1 (Q8TDI8)
S2P (p.Ser2Pro) in TMC1 (Q8TDI8) 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 and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- cosmic curated COSV52784
- Ensembl rs2132150068
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available