T60S (p.Thr60Ser) variant of COMP (P49747)
T60S (p.Thr60Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- ExAC rs762658260
- gnomAD rs762658260
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available