L60F (p.Leu60Phe) variant of CA2 (Carbonic anhydrase 2)
L60F (p.Leu60Phe) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- ESP rs374927018
- ExAC rs374927018
- gnomAD rs374927018
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -1.05
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available