A40P (p.Ala40Pro) variant of C2CD2L (O14523)
A40P (p.Ala40Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- gnomAD 11-119107859-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.05
- ESM-1b 0.01
- AlphaMissense 0.10
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available