L31V (p.Leu31Val) variant of PCCA (P05165)
L31V (p.Leu31Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- gnomAD 13-100089211-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available