S5F (p.Ser5Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
S5F (p.Ser5Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- cosmic curated COSV62174
- Ensembl rs898074685
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.18
- Structural context available